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6. Novel Approach for CES1Genotyping: Integrating Single Nucleotide Variants and Structural Variation

Author

Bjerre, Ditte, Berg Rasmussen, Henrik, and INDICES Consortium, The

Abstract

Aim:Development of a specific procedure for genotyping of CES1A1 (CES1) and CES1A2, a hybrid of CES1A1  and the pseudogene CES1P1. Materials & methods:The number of CES1A1 and CES1A2  copies and that of CES1P1  were determined using real-time PCR. Long range PCRs followed by secondary PCRs allowed sequencing of single nucleotide variants in CES1A1 and CES1A2. Results & conclusion:A procedure consisting of two main steps was developed. Its first main step, the copy number determination, informed about presence of CES1A2 . This information enabled choice of PCR in the second main step, which selectively amplified CES1A1 and, if present, also CES1A2, for subsequent sequencing. Examination of 501 DNA samples suggested that our procedure is specific with potential for personalization of drug treatments.

Published
2018
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8. The impact of CES1 genotypes on the pharmacokinetics of methylphenidate in healthy Danish subjects

Author

Stage, Claus, Jürgens, Gesche, Guski, Louise Schow, Thomsen, Ragnar, Bjerre, Ditte, Ferrero-Miliani, Laura, Yassine Kamal Lyauk, Berg Rasmussen, Henrik, and Dalhoff, Kim

Subjects
Adult, Male, Heterozygote, Cross-Over Studies, DNA Copy Number Variations, Genotype, Denmark, Administration, Oral, Polymorphism, Single Nucleotide, Healthy Volunteers, Young Adult, Pharmacogenetics, Gene Duplication, Mutation, Methylphenidate, Humans, Central Nervous System Stimulants, Female, Prospective Studies, Carboxylic Ester Hydrolases, Alleles
Abstract

This study investigated the influence of CES1 variations, including the single nucleotide polymorphism (SNP) rs71647871 (G143E) and variation in copy number, on the pharmacokinetics of a single oral dose of 10 mg methylphenidate.CES1 genotype was obtained from 200 healthy Danish Caucasian volunteers. Based on the genotype, 44 (19 males and 25 females) were invited to participate in an open, prospective trial involving six predefined genotypes: three groups with two, three and four CES1 copies, respectively; a group of carriers of the CES1 143E allele; a group of individuals homozygous for CES1A1c (CES1VAR); and a group having three CES1 copies, in which the duplication, CES1A2, had increased transcriptional activity. Plasma concentrations of methylphenidate and its primary metabolites were determined at scheduled time points.Median AUC of d-methylphenidate was significantly larger in the group carrying the 143E allele (53.3 ng mlThe 143E allele resulted in an increased AUC, suggesting a significantly decreased CES1 enzyme activity. Surprisingly, this was also the case in subjects with homozygous duplication of CES1, perhaps reflecting an undiscovered mutation affecting the activity of the enzyme.

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